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Severe neonatal-onset encephalopathy with microcephaly
rareAn X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.
- Identifiers
- MONDO:0010397 OMIM:300673Orphanet:209370
- Causal genes
- MECP2
- Part of
- Mendelian encephalopathyHereditary neurological diseaseMonogenic epilepsyNeonatal epilepsy syndrome
- Also known as
- encephalopathy, neonatal severe, X-linked recessive · severe congenital encephalopathy due to MECP2 mutation · severe neonatal encephalopathy due to MECP2 mutations
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